Quality of life is compromised significantly in young patients with primary headache disorders. The questionnaire used in this study is a valid and reliable self-administered instrument that may facilitate clinical research in headache.
Background Osmophobia (Os) has been reported to be much more prevalent in migraine (M) than in other primary headaches, and its high specificity in the differential diagnosis between M and tension-type headache (TTH) has been reported. Os was included in the ICHD II Appendix as a diagnostic criterion of M. It disappeared in ICHD-3 beta. To understand this choice, we reviewed the literature after 2004. Methods This was a systematic review. We searched in PubMed, MEDLINE and Cochrane library for "osmophobia", "odour/odorphobia AND headache", "odour/odor hypersensitivity AND headache" and "olfactory hypersensitivity AND headache". Results 112 papers cited Os as an accompanying symptom of headache; 16 focused on Os in M diagnosis. With the data from 40 articles, we calculated the pooled prevalence of Os in 14,360 patients (2281 pediatric) affected by M (n = 12,496) and TTH (n = 1864). In M, the prevalence was 48.5% (CI 95% 41.4 to 55.8%) in adults and 23.4% (CI 95% 15.7 to 33.4%) in pediatric patients; in TTH, the prevalence was 8.9% (CI 95% 4.6 to 13.5%) in adults and 7.9% (CI 95% 3.3 to 18.1%) in pediatric patients. Ten of these papers allowed us to calculate the sensibility and specificity of Os in differential diagnosis between M and TTH. In adults, the value of specificity was 94.1% (CI 95% 88.9 to 96.9%), and sensitivity was 51.4% (CI 95% 38.4 to 64.2%). In pediatric patients, specificity was 92.0% (CI 95% 81.9 to 96.7%), and sensitivity was 22.1% (CI 95% 10.1 to 41.8%). Conclusion The literature endorses the inclusion of Os among M diagnostic criteria. On this ground, the decision to remove Os from ICHD 3 beta appears unjustified and a revision of this choice is recommended.
A 21-year-old man had recurrent myoglobinuria; his 28-year-old sister had symptoms of fatigability. During prolonged fasting, serum free fatty acid rose in both siblings, but only the sister produced ketone bodies and had elevated creatine phosphokinase activity. Carnitine palmityl transferase (CPT) activity was less than 30% of normal in muscle and platelets. Liver biopsy disclosed a low level of the enzyme in the brother. The parents had intermediate levels of the enzyme in platelets. CPT deficiency seems to have an autosomal-recessive pattern of inheritance and a variable phenotypic expression.
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